Incidental Mutation 'R7875:Gdf11'
ID 608394
Institutional Source Beutler Lab
Gene Symbol Gdf11
Ensembl Gene ENSMUSG00000025352
Gene Name growth differentiation factor 11
Synonyms Bmp11
MMRRC Submission 045927-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R7875 (G1)
Quality Score 225.009
Status Not validated
Chromosome 10
Chromosomal Location 128718164-128727587 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 128722210 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Arginine to Histidine at position 215 (R215H)
Ref Sequence ENSEMBL: ENSMUSP00000026408 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000026408]
AlphaFold Q9Z1W4
Predicted Effect probably benign
Transcript: ENSMUST00000026408
AA Change: R215H

PolyPhen 2 Score 0.311 (Sensitivity: 0.90; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000026408
Gene: ENSMUSG00000025352
AA Change: R215H

DomainStartEndE-ValueType
signal peptide 1 24 N/A INTRINSIC
Pfam:TGFb_propeptide 57 298 4.6e-39 PFAM
TGFB 311 405 4.8e-48 SMART
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.7%
  • 20x: 99.2%
Validation Efficiency
MGI Phenotype FUNCTION: This gene encodes a secreted ligand of the TGF-beta (transforming growth factor-beta) superfamily of proteins. Ligands of this family bind various TGF-beta receptors leading to recruitment and activation of SMAD family transcription factors that regulate gene expression. The encoded preproprotein is proteolytically processed to generate each subunit of the disulfide-linked homodimer. This protein plays a role in the development of the nervous and other organ systems, and may regulate aging. Mice lacking a functional copy of this gene exhibit impaired anteroposterior patterning and other developmental defects. [provided by RefSeq, Aug 2016]
PHENOTYPE: Homozygotes for a null allele die neonatally showing altered patterning of the axial skeleton and impaired renal, palate, stomach, spleen and pancreatic development. A second null allele also alters retinal and olfactory epithelium neurogenesis. A third null allele causes extra thoracic vertebrae. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 57 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acap2 A T 16: 30,958,459 (GRCm39) F102I probably damaging Het
Acp7 A T 7: 28,314,152 (GRCm39) Y348N probably damaging Het
Adgre4 A T 17: 56,099,016 (GRCm39) D174V probably benign Het
Ahdc1 A G 4: 132,791,161 (GRCm39) T801A possibly damaging Het
Aldh1a7 A C 19: 20,693,343 (GRCm39) V192G possibly damaging Het
Anp32b T G 4: 46,451,301 (GRCm39) D2E probably benign Het
Arhgef11 A T 3: 87,591,808 (GRCm39) D53V probably damaging Het
Arid5b T C 10: 67,964,771 (GRCm39) N300S probably benign Het
Ascc2 A G 11: 4,618,389 (GRCm39) N328S probably benign Het
Aspm A T 1: 139,382,872 (GRCm39) Q68L probably benign Het
Ccng2 C G 5: 93,421,202 (GRCm39) S237R probably benign Het
Ccser1 A T 6: 61,288,932 (GRCm39) H365L probably benign Het
Col1a2 T A 6: 4,518,500 (GRCm39) N213K unknown Het
Col7a1 T C 9: 108,787,763 (GRCm39) V681A unknown Het
Cplane1 A G 15: 8,239,446 (GRCm39) I1216V probably benign Het
Dock9 A T 14: 121,863,396 (GRCm39) Y792* probably null Het
Fam241b A T 10: 61,970,271 (GRCm39) S10R Het
Gab1 C T 8: 81,515,395 (GRCm39) D308N probably damaging Het
Gpc1 T C 1: 92,782,970 (GRCm39) probably null Het
Hnf4a G T 2: 163,400,980 (GRCm39) E200* probably null Het
Ints2 T C 11: 86,103,888 (GRCm39) T1086A probably damaging Het
Kbtbd7 A G 14: 79,664,806 (GRCm39) T213A probably benign Het
Kcnt2 A G 1: 140,501,385 (GRCm39) D917G probably damaging Het
Kdm5a C A 6: 120,375,979 (GRCm39) Y578* probably null Het
Lrrtm4 A T 6: 79,999,343 (GRCm39) T252S possibly damaging Het
Mamdc4 C T 2: 25,458,677 (GRCm39) W305* probably null Het
Mzb1 A G 18: 35,780,913 (GRCm39) I125T possibly damaging Het
Nfrkb A G 9: 31,321,450 (GRCm39) T716A possibly damaging Het
Or2ad1 T A 13: 21,327,093 (GRCm39) I45F probably damaging Het
Or4f6 A G 2: 111,839,192 (GRCm39) V113A probably benign Het
Or52r1b A G 7: 102,691,060 (GRCm39) M120V probably damaging Het
Or8k16 G A 2: 85,519,838 (GRCm39) E22K probably benign Het
Plcxd2 G A 16: 45,830,065 (GRCm39) A52V possibly damaging Het
Poteg C T 8: 27,939,942 (GRCm39) P95L probably benign Het
Prdm9 A T 17: 15,773,804 (GRCm39) Y322* probably null Het
Rab11fip2 G C 19: 59,925,655 (GRCm39) I187M possibly damaging Het
Ranbp2 G T 10: 58,314,277 (GRCm39) E1666* probably null Het
Rin3 T C 12: 102,335,735 (GRCm39) S549P probably damaging Het
Scn10a C T 9: 119,464,508 (GRCm39) probably null Het
Scn3a A G 2: 65,327,826 (GRCm39) F888S probably damaging Het
Sik3 T A 9: 46,034,528 (GRCm39) I96N probably damaging Het
Slc12a7 T A 13: 73,936,723 (GRCm39) C128S possibly damaging Het
Spata31h1 T C 10: 82,123,456 (GRCm39) S3185G possibly damaging Het
Syde2 A G 3: 145,726,020 (GRCm39) E1304G probably damaging Het
Tagln T C 9: 45,841,680 (GRCm39) I199V probably damaging Het
Tars3 T A 7: 65,327,899 (GRCm39) V536E probably benign Het
Tas2r140 A G 6: 40,469,097 (GRCm39) K309R probably damaging Het
Thra A T 11: 98,659,257 (GRCm39) D462V probably damaging Het
Topaz1 A G 9: 122,578,652 (GRCm39) T521A possibly damaging Het
Uhrf1 A G 17: 56,619,884 (GRCm39) N265S possibly damaging Het
Upk3b A T 5: 136,069,057 (GRCm39) Y142F probably benign Het
Vmn1r219 T C 13: 23,347,363 (GRCm39) V184A possibly damaging Het
Vmn1r58 T C 7: 5,413,753 (GRCm39) D159G probably damaging Het
Vnn3 C A 10: 23,743,146 (GRCm39) A452D possibly damaging Het
Wscd1 T A 11: 71,679,560 (GRCm39) Y478N probably damaging Het
Xrcc5 C T 1: 72,369,090 (GRCm39) R315C probably damaging Het
Zkscan5 A C 5: 145,157,676 (GRCm39) H726P probably damaging Het
Other mutations in Gdf11
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02308:Gdf11 APN 10 128,721,253 (GRCm39) missense probably damaging 1.00
R0056:Gdf11 UTSW 10 128,722,294 (GRCm39) missense probably benign 0.04
R1773:Gdf11 UTSW 10 128,727,163 (GRCm39) missense probably damaging 0.99
R1858:Gdf11 UTSW 10 128,722,315 (GRCm39) missense probably damaging 1.00
R1988:Gdf11 UTSW 10 128,721,111 (GRCm39) missense probably benign 0.05
R2025:Gdf11 UTSW 10 128,727,314 (GRCm39) missense probably damaging 1.00
X0067:Gdf11 UTSW 10 128,722,072 (GRCm39) missense possibly damaging 0.91
Predicted Primers PCR Primer
(F):5'- ATTAGTTCCTGGCCCCAACC -3'
(R):5'- TCTCTTATCAGCGGACCCTG -3'

Sequencing Primer
(F):5'- GGGGACAGGTTATACATATCCTCC -3'
(R):5'- TTATCAGCGGACCCTGCAGTG -3'
Posted On 2019-12-20